Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.I159_S160delFs

c.475_478del4

Surrounding Variants

2 papers

NM_000051.4

p.I159fs

c.475_476fs

1 paper

NM_000051.4

p.I159V

c.475A>G

1 paper

NM_000051.4

p.I159fs

c.475_476fs

2 papers

NM_000051.4

p.E158K

c.472G>A

2 papers

NM_000051.4

p.E158Q

c.472G>C

1 paper

NM_000051.4

p.E158fs

c.472_473fs

1 paper

NM_000051.4

p.I159delFs

c.475delA

4 papers

NM_000051.4

p.I159K

c.476T>A

11 papers

NM_000051.4

p.S160_Q161delFs

c.478_482del5

1 paper

NM_000051.4

p.C157*

c.471T>A

1 paper

NM_000051.4

p.C157F

c.470G>T

1 paper

NM_000051.4

p.S160T

c.478T>A